Generic selectors
Exact matches only
Search in title
Search in content
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters in Response to Previous Publication
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Letter To Editor
2008:74:4;398-399
doi: 10.4103/0378-6323.42922
PMID: 18797076

Fanconi's anemia

Gnaneshwar A Rao
 Department of Dermatology, Gandhi Medical College and Hospital, Musheerabad, Hyderabad, India

Correspondence Address:
Gnaneshwar A Rao
F-12, B8, HIG-2, Baghlingampally, Hyderabad- 500 044
India
How to cite this article:
Rao GA. Fanconi's anemia. Indian J Dermatol Venereol Leprol 2008;74:398-399
Copyright: (C)2008 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

Fanconi described a fatal disorder in three brothers, that was characterized by pancytopenia, bone marrow hypoplasia and congenital anomalies. [1] Although rare, the disorder is sufficiently common that an international study group has been established to register clinical experience. [2] The disorder is characterized by a variable clinical picture consisting of pancytopenia, skeletal abnormalities, neurological and endocrine disorders, chromosomal instability, and an increased risk of leukemia and other tumors.

A seven year-old female child born to nonconsanguineous parents was brought to our out patient department for three year-old pigmentary changes on the trunk and limbs. There was no similar history in the family. General examination revealed gross pallor, while cutaneous examination revealed hypo- and hypopigmented macules 0.1-1 cm in size, distributed on the neck, trunk, and the dorsae of the hands and feet. Axillae, groins and palms and soles were also involved. A single cafι-au-lait macule was present on the chest. The left thumb showed syndactyly. Hemoglobin (Hb) was 3.5 g%; sickling test was negative while Hb electrophoresis showed the presence of HbA and HbF (15.7%). An X-ray of the left hand showed syndactyly of the left thumb. Ultrasonography of the abdomen showed a mild echogenic center in the liver. Bone marrow biopsy revealed a hypoplastic marrow of moderate degree. Histopathological examination of the skin showed a mild hyperkeratosis, vacuolation of the basal layer with melanin pigment incontinence. Cytogenic study of peripheral blood confirmed the diagnosis of Fanconi′s anemia which showed a spontaneous chromosomal breakage of 1.37% and mitomycin stress induced chromosomal breakage of 4.52%. The cytogenic study was done at the Centre for DNA Fingerprinting and Diagnostics, Hyderabad.

Fanconi′s anemia is a rare autosomal recessive disorder. Cells from Fanconi′s anemia patients are uniquely hypersensitive to the damaging effects of DNA-modifying agents such as diepoxybutane and cyclophosphamide. [3] Currently, there are 11 known Fanconi′s anemia genes. [4] The usual age of detection of the disease is about seven years but it may also be apparent at birth or the diagnosis may not be established until the 3 rd or 4 th decade of life. Cutaneous and hematological abnormalities may be the presenting manifestations. There is a generalized dusky or olive brown pigmentation, often most intense in the lower trunk, flexures and on the neck. Raindrop-like, depigmented macules are scattered over the dusky areas of pigmentation; [5] rarely, cafι-au-lait macules may be seen. Our case has most of the classical clinical features of Fanconi′s anemia such as pigmentary changes, syndactyly and anemia. Affected children are usually slenderly built with short, broad hands and tapering fingers

A constant feature of Fanconi′s anemia is progressive hypoplastic anemia with neutropenia and thrombocytopenia. Malformations of various organs are observed. Renal anomalies are seen in 28% of patients of Fanconi′s anemia, which include renal aplasia and horseshoe kidney. Microcephaly, mental retardation and hypogonadism are frequent. Some (21%) patients have ocular abnormalities such as strabismus and microphtlamia. Hypogonadism is seen in 20% of all patients. Giempietro et al , have also reported four cases of Fanconi′s anemia with pigmentary and digital anomalies. [6] Patients with Fanconi′s anemia have a higher incidence of hematological malignancies, particularly nonlymphatic leukemia.

The course is often progressively downhill with death from infection, hemorrhage, or neoplasia. Most patients of Fanconi′s anemia respond to corticosteroid therapy. The neutrophil count increases in most patients but the platelet response is less consistent. Patients with Fanconi′s anemia need continuous maintenance androgen therapy. Hemopoietic stem cell gene therapy to reintroduce wild type cDNA, is a new concept in the treatment of hereditary diseases and may be applicable in Fanconi′s anemia as this disorder can be successfully treated by allogenic stem cell transplantation. Umbilical cord blood cell transfusion can be an alternative source of hemopoietic stem cells for allogenic transplantation. Morimoto et al , have treated a five year-old girl suffering from Fanconi′s anemia with umbilical cord blood cell transfusion. [7]

References
1.
Williams DM. Pancytopenia, Aplastic anemia and pure red cell aplasia. In: Richard Lee G, Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM, editors: Wintobe's clinical heamatology. 10 th ed. Lippincott Williams and Wilkins; 1999. p. 1472.
th ed. Lippincott Williams and Wilkins; 1999. p. 1472.'>[Google Scholar]
2.
Giampietro PF, Verlander PC, Davis JG, Auerbach AD. Diagnosis of Fanconi's anemia in patients without congrnital malformations: An international Fanconi's anemia register study. Am J Med Genet 1997;68:58-61.
[Google Scholar]
3.
Kraemer KH. Heritable diseases with increased sensitivity to cellular injury: Fanconi's anemia. In: Freedberg IM, Eisen AZ, Wolff K, Austen FK, Golsmith LA, Katz SI, et al , editors. Dermatology in general medicine. 5 th ed, Mc Graw Hill, Inc; 1999. p. 1857-8.
et al , editors. Dermatology in general medicine. 5 th ed, Mc Graw Hill, Inc; 1999. p. 1857-8.'>[Google Scholar]
4.
Alter B. Diagnostic evaluation of Fanconi anemia. In: Owen J, Frohnmayer L, Eiler ME, editors; Fanconi anemia, standards of clinical care. 2 nd ed. Fanconi anemia Research Fund Inc; 2003. p. 10-11.
[Google Scholar]
5.
Bleehen SS, Anstey AV. Disorders of skin color: Fanconi's syndrome. In: Burns T, Breathnach S, Cox N, Griffiths C, editors, Rooks textbook of dermatology. 7 th ed. Blackwell Science; 2004. p. 39.22.
th ed. Blackwell Science; 2004. p. 39.22.'>[Google Scholar]
6.
Giampietro PF, Auerbach AD, Elias ER, Gutman A, Zellers NJ, Davis JG. New recessive syndromes characterized by increased chromosomal breakage and several findings which overlap with Fanconi's anemia. Am J Med Genet 1998;78:70-5.
[Google Scholar]
7.
Morimoto T, Shikada M, Yabe H, Yabe M, Hattori K, Shimizu T, et al : Umbilical cord blood transplantation for a patient with Diamond - Blackfan syndrome. Jpn J Clin Haematol 1997;38:610-5.
[Google Scholar]

Fulltext Views
157

PDF downloads
186
Show Sections